Researchers develop DNA sequencing tests for hereditary diseases

Scientists at the University of Medicine and Dentistry of New Jersey-New Jersey Medical School (UMDNJ-NJMS) have developed DNA sequencing tests that hold significant promise for decreasing costs associated with diagnosing cancer and hereditary diseases, including cystic fibrosis (CF).

Officials at the New Jersey Department of Health (NJDHSS) approved the use of the new Cystic Fibrosis Carrier and Diagnosis Test, which was created at the Institute of Genomic Medicine (IGM) at UMDNJ-NJMS. Using a semiconductor mechanism that was developed by San Francisco-based Ion Torrent, the microchip tests the entire gene for mutations. IGM now offers this certified Clinical Diagnostic Laboratory service for hospitals as well as obstetrics and gynaecology practices throughout New Jersey.

According to the Cystic Fibrosis Foundation website, “More than 10 million Americans are symptomless carriers of the defective CF gene.” This chronic disease impacts the lungs and the digestive system. It occurs when a child inherits one defective CF gene from each parent.

“We believe the adaptation of this new sequencing technology will drastically improve our ability to analyse genetic disorders,” said Marvin N Schwalb, PhD, Director of the Institute of Genomic Medicine. “Traditional CF sequencing testing costs thousands of dollars, making the test unavailable for carrier screening. This new test costs less than $200.

“Most importantly, the genetic carrier test we developed improves the diagnosis rate to 98%. While the test provides significant improvement for all populations, the improved rate is particularly valuable for minorities because current carrier screening methods only detect approximately 65% of mutations in these populations.”

The new technology provides many advances, including the ability to test as many as 96 samples on a single platform and the fact that the equipment costs one-tenth as much as the previous technology.

IGM has developed another test, which was also approved by the NJDHSS, for mitochondrial DNA. Mutations in mitochondria cause a wide variety of diseases, such as eye and neuromuscular system disorders and possible cancer.

Dr Schwalb, a Professor of Pediatrics, Microbiology and Molecular Genetics at NJMS, said, “We are proud of the fact that the IGM is a world leader in the advancement of genetic diagnosis. DNA sequencing will keep us very busy for a while. In the state of New Jersey, there is nothing that compares to this advancement and this is just the beginning.”